No paralogue variants have been mapped to residue 90 for KCNH2.
| KCNH2 | L---------------------------GA>E<E-R-------KVE-IAFYRK---------- | 101 |
| KCNH1 | E---------------------------NY>E<M-N-------SFE-ILMYKK---------- | 102 |
| KCNH3 | D---------------------------EH>K<E-F-------KAE-LILYRK---------- | 102 |
| KCNH4 | E---------------------------GH>Q<E-H-------RAE-ICFYRK---------- | 102 |
| KCNH5 | D---------------------------NY>E<S-N-------CFE-VLLYKK---------- | 100 |
| KCNH6 | L---------------------------GA>E<E-C-------KVD-ILYYRK---------- | 101 |
| KCNH7 | L---------------------------GS>E<E-R-------KVE-VTYYHK---------- | 101 |
| KCNH8 | E---------------------------EK>T<E-F-------KGE-IMFYKK---------- | 102 |
| CNGA1 | S---------------------------ED>D<D-SASTSEESENEN-PHA-R---------- | 63 |
| CNGA2 | S---------------------------AA>D<DDTSSE---------LQR-L---------- | 53 |
| CNGA3 | S---------------------------SS>E<E-TSSVLQPGIAME-TRG-L---------- | 57 |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | E---------------------------AQ>D<T-R-------PGLRLLLWLEQNLERVLPQP | 173 |
| CNGB3 | ------------------------------>-<------------------------------ | |
| HCN1 | FPAKASATGAGPAAAEKRLGTPPGGGGAGA>K<E-H-------GNS-VCFKVD---------- | 62 |
| HCN2 | TPGAASTAKGSPNGECGRGEPQCSPAGPEG>P<A-R-------GPK-VSFSCR---------- | 128 |
| HCN3 | ------------------------------>-<---------------APPPA---------- | 30 |
| HCN4 | QPPQPAS----------------------->-<----------------ASCE---------- | 180 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.E90K | c.268G>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Risk of life-threatening cardiac events among patients with long QT syndrome and multiple mutations. Heart Rhythm. 2013 10(3):378-82. doi: 10.1016/j.hrthm.2012.11.006. 23174487 | ||
| p.E90D | c.270G>T | Unknown | SIFT: deleterious Polyphen: benign | ||